|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that AXIN2 polymorphic variants may be associated with both hypodontia and oligodontia.
|
16432638 |
2006 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous, germline nonsense mutations in AXIN2 have been reported in two families with oligodontia and colorectal cancer (CRC) predisposition, including an AXIN2 1989G>A mutation.
|
26025668 |
2015 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our study supports the relationship between AXIN2 mutation and non-syndromic oligodontia and extends the mutation spectrum of the AXIN2 gene.
|
26406231 |
2015 |
|
Hypodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Oligodontia as well as hypodontia (lack of one or more permanent teeth) are highly heritable conditions associated with mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes.
|
21626677 |
2011 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We analysed this novel AXIN2 mutant, together with two reported AXIN2 mutants [c.1966C>T (p.Arg656Stop) and c.1994delG (p.Leu688Stop)] that cause colorectal cancer with and without oligodontia, to study the effect of the mutant p.His660Tyr on the Wnt/β-catenin signaling pathway and to compare the molecular pathogenesis of different AXIN2 mutants in tooth agenesis and carcinogenesis.
|
27090353 |
2016 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our findings indicate that AXIN2 can be regarded as a candidate gene for mutation detection in individuals with non-syndromic oligodontia in the Chinese population.
|
24581859 |
2014 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Sequence analysis of PAX9, MSX1 and AXIN2 genes in a Chinese oligodontia family.
|
21530942 |
2011 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this case report we describe a family with c.1972delA, p.Ser658Alafs*31 nonsense variant in AXIN2 where the three confirmed carriers presented with both oligodontia and colorectal adenomatous polyposis; mean number of teeth missing in carriers was 16.5 (range 11-22) and mean number of polyps in carriers was 49 (range 5->100, polyps were predominantly adenomatous).
|
30671715 |
2019 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Oligodontia as well as hypodontia (lack of one or more permanent teeth) are highly heritable conditions associated with mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes.
|
21626677 |
2011 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The findings suggest that the c.956+16A>G, c.1365A>G and c.1200+71A>G mutations of AXIN2 may be responsible for the oligodontia phenotype in this family, but these findings require further study.
|
25377791 |
2015 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Considering the discrepancy between the high incidence rate of agenesis and the relatively small number of reported causative mutations in PAX9, MSX1 and AXIN2 genes, the genetic contribution to oligodontia probably is much more heterogeneous than expected so far.
|
16918677 |
2006 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We show that oligodontia and predisposition to cancer are caused by a nonsense mutation, Arg656Stop, in the Wnt-signaling regulator AXIN2.
|
15042511 |
2004 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our study supports the relationship between AXIN2 mutation and non-syndromic oligodontia and extends the mutation spectrum of the AXIN2 gene.
|
26406231 |
2015 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that AXIN2 polymorphic variants may be associated with both hypodontia and oligodontia.
|
16432638 |
2006 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Previous authors have described an unrelated family with autosomal dominant oligodontia and a variable colorectal phenotype segregating with a nonsense mutation of AXIN2, as well as a frameshift AXIN2 mutation in an unrelated individual with oligodontia.
|
21416598 |
2011 |
|
Oligodontia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous, germline nonsense mutations in AXIN2 have been reported in two families with oligodontia and colorectal cancer (CRC) predisposition, including an AXIN2 1989G>A mutation.
|
26025668 |
2015 |
|
Malignant tumor of colon
|
0.470 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, AXIN2, a gene that when mutated increases susceptibility to colon cancer, also is associated with CL/P.
|
19119171 |
2009 |
|
Malignant tumor of colon
|
0.470 |
GeneticVariation
|
disease |
BEFREE |
The finding was reminiscent of a previously described family harboring an AXIN2 mutation which could be shown to segregate with both the tooth agenesis and the predisposition to colon cancer transmitted in this family.
|
24631698 |
2014 |
|
Stomach Neoplasms
|
0.410 |
GeneticVariation
|
group |
BEFREE |
This multicenter study evaluated the association of 9 single nucleotide polymorphisms (SNP) in AXIN2 and CDH1, representing genes consistently altered in breast and gastric tumors, with NSCL ± P in 223 trios (father, mother and patient with NSCL ± P) by transmission disequilibrium test (TDT).
|
28376813 |
2017 |
|
Liver carcinoma
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Activation of the Wnt signaling pathway is frequently observed in hepatocellular carcinoma (HCC), though mutation of three of its components, CTNNB1, AXIN1, and AXIN2, is observed substantially less often.
|
18592156 |
2008 |
|
Liver carcinoma
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
About half the HCCs with AXIN1 or AXIN2 mutations showed beta-catenin accumulation in the nucleus, cytoplasm or membrane.
|
12101426 |
2002 |
|
Colonic Neoplasms
|
0.330 |
GeneticVariation
|
group |
LHGDN |
AXIS inhibition protein 2, orofacial clefts and a family history of cancer.
|
19119171 |
2009 |
|
Colorectal Neoplasms
|
0.330 |
GeneticVariation
|
group |
LHGDN |
Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer.
|
15042511 |
2004 |
|
Malignant neoplasm of stomach
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
The present data indicate that frameshift mutations in both AXIN2 and TCF7L2 genes are common in gastric carcinomas with high MSI and suggest that these mutations may contribute to development of gastric cancers with high MSI by deregulating the Wnt signaling in the affected cancer cells.
|
18755497 |
2009 |
|
Agenesis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We analysed this novel AXIN2 mutant, together with two reported AXIN2 mutants [c.1966C>T (p.Arg656Stop) and c.1994delG (p.Leu688Stop)] that cause colorectal cancer with and without oligodontia, to study the effect of the mutant p.His660Tyr on the Wnt/β-catenin signaling pathway and to compare the molecular pathogenesis of different AXIN2 mutants in tooth agenesis and carcinogenesis.
|
27090353 |
2016 |